Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3737246012 | Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive | SNOMED CT core module |
| 3737247015 | Syndromic multisystem autoimmune disease due to ITCH deficiency | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| 3737248013 | Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency | Is a | Autoimmune disease | true | Inferred relationship | Existential restriction modifier | ||
| Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency | Finding site | Face structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency | Is a | Congenital immunodeficiency disease | true | Inferred relationship | Existential restriction modifier | ||
| Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 | |
| Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency | Is a | Primary immune deficiency disorder | true | Inferred relationship | Existential restriction modifier | ||
| Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Existential restriction modifier | ||
| Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency | Is a | Global developmental delay | true | Inferred relationship | Existential restriction modifier | ||
| Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
| Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency | Pathological process | Autoimmune process | true | Inferred relationship | Existential restriction modifier | 2 | |
| Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR